Canonical Allele Identifier: CA1120705508

Gene: GLIS3

Linked Data

• dbSNP Id: rs1831957271
• gnomAD v3: 9-4118803-C-CTGCTTCA
• gnomAD v4: 9-4118803-C-CTGCTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118809_4118815dup , CM000671.2:g.4118809_4118815dup	GRCh38
NC_000009.11:g.4118809_4118815dup , CM000671.1:g.4118809_4118815dup	GRCh37
NC_000009.10:g.4108809_4108815dup	NCBI36
NG_011782.1:g.186226_186232dup
NG_011782.2:g.186226_186232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*31_*37dup	ENSP00000419914.1:n.*31_*37dup
ENST00000645252.2:n.152+32130_152+32136dup
ENST00000682749.1:c.203_209dup	ENSP00000507306.1:p.Gln70HisfsTer25
ENST00000682846.1:c.131+6924_131+6930dup	ENSP00000507527.1:n.131+6924_131+6930dup
ENST00000381971.8:c.668_674dup MANE Select	ENSP00000371398.3:p.Gln225HisfsTer25
ENST00000645252.1:n.152+32130_152+32136dup
ENST00000324333.14:c.203_209dup	ENSP00000325494.10:p.Gln70HisfsTer25
ENST00000381971.7:c.668_674dup	ENSP00000371398.3:p.Gln225HisfsTer25
ENST00000462164.5:c.203_209dup	ENSP00000418671.1:p.Gln70HisfsTer?
ENST00000473846.5:n.427_433dup
ENST00000477901.5:c.668_674dup	ENSP00000417794.1:p.Gln225HisfsTer?
ENST00000478315.5:c.203_209dup	ENSP00000418995.1:p.Gln70HisfsTer?
ENST00000478844.5:c.203_209dup	ENSP00000418005.1:p.Gln70HisfsTer?
ENST00000481827.5:c.668_674dup	ENSP00000417883.1:p.Gln225HisfsTer?
ENST00000490709.1:n.488_494dup
ENST00000491889.5:c.*31_*37dup	ENSP00000419914.1:n.*31_*37dup
NM_001042413.1:c.668_674dup	NP_001035878.1:p.Gln225HisfsTer25
NM_152629.3:c.203_209dup	NP_689842.3:p.Gln70HisfsTer25
XM_005251386.3:c.203_209dup	XP_005251443.1:p.Gln70HisfsTer25
XM_005251387.3:c.2_8dup	XP_005251444.1:p.Gln3HisfsTer25
XM_005251388.3:c.2_8dup	XP_005251445.1:p.Gln3HisfsTer25
XM_005251389.3:c.668_674dup	XP_005251446.1:p.Gln225HisfsTer25
XM_006716731.2:c.668_674dup	XP_006716794.1:p.Gln225HisfsTer25
XM_011517763.1:c.668_674dup	XP_011516065.1:p.Gln225HisfsTer25
XM_011517764.1:c.668_674dup	XP_011516066.1:p.Gln225HisfsTer25
XM_011517765.1:c.668_674dup	XP_011516067.1:p.Gln225HisfsTer25
XM_011517766.1:c.203_209dup	XP_011516068.1:p.Gln70HisfsTer25
XM_011517767.1:c.2_8dup	XP_011516069.1:p.Gln3HisfsTer25
XM_011517768.1:c.668_674dup	XP_011516070.1:p.Gln225HisfsTer25
XM_011517769.1:c.668_674dup	XP_011516071.1:p.Gln225HisfsTer25
XR_929206.1:n.1434_1440dup
XM_005251386.4:c.203_209dup	XP_005251443.1:p.Gln70HisfsTer25
XM_005251387.4:c.2_8dup	XP_005251444.1:p.Gln3HisfsTer25
XM_005251388.4:c.2_8dup	XP_005251445.1:p.Gln3HisfsTer25
XM_005251389.5:c.668_674dup	XP_005251446.1:p.Gln225HisfsTer25
XM_006716731.3:c.668_674dup	XP_006716794.1:p.Gln225HisfsTer25
XM_011517763.2:c.668_674dup	XP_011516065.1:p.Gln225HisfsTer25
XM_011517764.2:c.668_674dup	XP_011516066.1:p.Gln225HisfsTer25
XM_011517765.2:c.668_674dup	XP_011516067.1:p.Gln225HisfsTer25
XM_011517766.2:c.203_209dup	XP_011516068.1:p.Gln70HisfsTer25
XM_011517767.3:c.2_8dup	XP_011516069.1:p.Gln3HisfsTer25
XM_011517769.2:c.668_674dup	XP_011516071.1:p.Gln225HisfsTer25
XM_017014361.1:c.203_209dup	XP_016869850.1:p.Gln70HisfsTer25
XR_929206.2:n.1430_1436dup
NM_001042413.2:c.668_674dup MANE Select	NP_001035878.1:p.Gln225HisfsTer25
NM_152629.4:c.203_209dup	NP_689842.3:p.Gln70HisfsTer25